Variant report

Variant	nsv1015193
Chromosome Location	chr5:98758435-98819617
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 465 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575193457	chr5:98767629-98767630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113137911	chr5:98767658-98767659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543332171	chr5:98767661-98767662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs3018500	chr5:98767744-98767745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2369877	chr5:98767777-98767778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2257793	chr5:98767783-98767784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs114489990	chr5:98767795-98767796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540845824	chr5:98767796-98767797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371544528	chr5:98767817-98767818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185875591	chr5:98767825-98767826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551449350	chr5:98767834-98767835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564208773	chr5:98767851-98767852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116449516	chr5:98767860-98767861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530485830	chr5:98767865-98767866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2963582	chr5:98767869-98767870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567843266	chr5:98767874-98767875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs535270497	chr5:98767885-98767886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72445765	chr5:98767895-98767896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs70984350	chr5:98767901-98767902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189802012	chr5:98767908-98767909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181112680	chr5:98767915-98767916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538747767	chr5:98767932-98767933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557005073	chr5:98767957-98767958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28541963	chr5:98767991-98767992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs201963416	chr5:98768039-98768040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536228831	chr5:98768040-98768041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555660913	chr5:98768120-98768121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573848077	chr5:98768123-98768124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561985207	chr5:98768227-98768228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375561047	chr5:98768247-98768248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577884362	chr5:98768286-98768287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545140893	chr5:98768296-98768297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563358116	chr5:98768310-98768311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370064570	chr5:98768386-98768387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187063711	chr5:98768393-98768394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374333025	chr5:98768394-98768395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368161656	chr5:98768421-98768422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528794413	chr5:98768484-98768485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547223079	chr5:98768580-98768581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200543647	chr5:98768677-98768678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140632056	chr5:98768753-98768754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201741313	chr5:98768768-98768769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191454080	chr5:98768777-98768778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550693006	chr5:98768779-98768780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568986435	chr5:98768805-98768806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536695662	chr5:98768834-98768835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199631950	chr5:98768983-98768984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372568877	chr5:98769059-98769060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200635400	chr5:98769131-98769132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566816597	chr5:98769151-98769152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98767600-98770200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:98773000-98773600	Enhancers	Colon Smooth Muscle	Colon
3	chr5:98773200-98774000	Enhancers	Fetal Kidney	kidney
4	chr5:98773400-98774200	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:98773600-98773800	Enhancers	Gastric	stomach
6	chr5:98779000-98779400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:98779000-98779800	Enhancers	Stomach Mucosa	stomach
8	chr5:98779800-98780800	Weak transcription	Stomach Mucosa	stomach
9	chr5:98780800-98781800	Enhancers	Stomach Mucosa	stomach
10	chr5:98781200-98781600	Enhancers	Gastric	stomach
11	chr5:98781800-98783600	Weak transcription	Stomach Mucosa	stomach
12	chr5:98783600-98784000	Enhancers	Stomach Mucosa	stomach
13	chr5:98785400-98785800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:98785400-98786000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:98795600-98796800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:98795600-98798000	Enhancers	HUVEC	blood vessel
17	chr5:98795800-98796200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:98796000-98796400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:98796000-98796400	Enhancers	HMEC	breast
20	chr5:98796200-98796600	Enhancers	Stomach Mucosa	stomach
21	chr5:98797800-98798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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